A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674282



Internal ID9593701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140842631..140860837hg38UCSC Ensembl
Outerchr5:140842260..140861207hg38UCSC Ensembl
Innerchr5:140222216..140240422hg19UCSC Ensembl
Outerchr5:140221845..140240792hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3818948
hg1918948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1043e199
Supporting Variantsessv5568072, essv5594421, essv5548478, essv6573192, essv5688186, essv5402403, essv6188470, essv5696932, essv5676023, essv5772278, essv5647127, essv5757371
SamplesHG01356, HG01462, HG01465, HG01140, HG01350, HG01136, HG01498, HG01497, HG01494, HG01137, HG01254, HG01377
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674282
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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